Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4940 | 15043;15044;15045 | chr2:178735628;178735627;178735626 | chr2:179600355;179600354;179600353 |
| N2AB | 4623 | 14092;14093;14094 | chr2:178735628;178735627;178735626 | chr2:179600355;179600354;179600353 |
| N2A | 3696 | 11311;11312;11313 | chr2:178735628;178735627;178735626 | chr2:179600355;179600354;179600353 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs763015586  |
None | 0.999 | N | 0.609 | 0.345 | 0.24896430686 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs763015586 |
None | 0.999 | N | 0.609 | 0.345 | 0.24896430686 | gnomAD-4.0.0 | 6.57039E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs763015586 |
-0.48 | 0.37 | N | 0.179 | 0.268 | 0.17258766438 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/N | rs763015586 |
-0.48 | 0.37 | N | 0.179 | 0.268 | 0.17258766438 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99491E-07 | 1.15942E-05 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2806 | likely_benign | 0.3624 | ambiguous | -0.07 | Destabilizing | 0.978 | D | 0.517 | neutral | N | 0.455463333 | None | None | N |
| D/C | 0.7722 | likely_pathogenic | 0.8406 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/E | 0.1668 | likely_benign | 0.2133 | benign | -0.246 | Destabilizing | 0.37 | N | 0.234 | neutral | N | 0.445886402 | None | None | N |
| D/F | 0.7335 | likely_pathogenic | 0.8177 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| D/G | 0.1327 | likely_benign | 0.169 | benign | -0.232 | Destabilizing | 0.978 | D | 0.451 | neutral | N | 0.435775682 | None | None | N |
| D/H | 0.4272 | ambiguous | 0.5059 | ambiguous | 0.516 | Stabilizing | 0.999 | D | 0.609 | neutral | N | 0.450369486 | None | None | N |
| D/I | 0.6567 | likely_pathogenic | 0.7676 | pathogenic | 0.3 | Stabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| D/K | 0.4446 | ambiguous | 0.5436 | ambiguous | 0.322 | Stabilizing | 0.983 | D | 0.527 | neutral | None | None | None | None | N |
| D/L | 0.5894 | likely_pathogenic | 0.6864 | pathogenic | 0.3 | Stabilizing | 0.998 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/M | 0.746 | likely_pathogenic | 0.8214 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| D/N | 0.1086 | likely_benign | 0.1265 | benign | 0.01 | Stabilizing | 0.37 | N | 0.179 | neutral | N | 0.351289833 | None | None | N |
| D/P | 0.8597 | likely_pathogenic | 0.8906 | pathogenic | 0.198 | Stabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| D/Q | 0.4397 | ambiguous | 0.5272 | ambiguous | 0.039 | Stabilizing | 0.995 | D | 0.537 | neutral | None | None | None | None | N |
| D/R | 0.5005 | ambiguous | 0.5912 | pathogenic | 0.629 | Stabilizing | 0.995 | D | 0.653 | neutral | None | None | None | None | N |
| D/S | 0.1901 | likely_benign | 0.2441 | benign | -0.101 | Destabilizing | 0.983 | D | 0.37 | neutral | None | None | None | None | N |
| D/T | 0.4267 | ambiguous | 0.5374 | ambiguous | 0.031 | Stabilizing | 0.995 | D | 0.553 | neutral | None | None | None | None | N |
| D/V | 0.4163 | ambiguous | 0.5263 | ambiguous | 0.198 | Stabilizing | 0.997 | D | 0.68 | prob.neutral | N | 0.459061162 | None | None | N |
| D/W | 0.8992 | likely_pathogenic | 0.928 | pathogenic | 0.096 | Stabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/Y | 0.2737 | likely_benign | 0.3351 | benign | 0.235 | Stabilizing | 1.0 | D | 0.663 | neutral | N | 0.446722087 | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.